Genomics England
GMS Panels
Panels
Genes and Entities

RPSA

ribosomal protein SA
OMIM: 150370
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Isolated congential asplenia 271400, Bacteremia (encapsulated bacteria), Defects in Intrinsic and Innate Immunity